title: Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
abstract: A male infant was born by emergent caesarean section at 39 weeks gestational age secondary to maternal and fetal distress. Initial physical examination was notable for macrocephaly (greater than+2SD), postaxial polydactyly of the hands and facial dysmorphism. Head imaging demonstrated diffuse polymicrogyria without hydrocephalus. All findings were consistent with a diagnosis of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. At the 4-year follow-up, megalencephaly persisted without evidence of hydrocephalus. The child was severely delayed with a stable seizure disorder controlled with dual antiepileptic therapy. This case meets the classic criteria for MPPH syndrome, adding to the limited experience with this disease. The 4-year follow-up and absence of hydrocephalus, once thought to be a key diagnostic criterion, adds to our understanding of the long-term sequelae.
authors.affiliation: Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, Minnesota, USA.
authors.forename: Tara G
authors.initials: TG
authors.lastname: Zamora
authors.forename: Kari D
authors.initials: KD
authors.lastname: Roberts
mesh_terms: D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D018450:Disease Progression; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis*; D017689:Polydactyly / Q000175:diagnosis*